Seroatlas · Human Serome Atlas

ERLIN1

Erlin-1

Also known as: C10orf69, Erlin-1, ERLN1_HUMAN, KE04, SPFH1, SPG62

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75477
Gene: ERLIN1
Ensembl: ENSG00000107566
Chromosome: 10
Canonical length: 348 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]

Canonical amino-acid sequenceUniProt

348 residues, UniProt reviewed canonical sequence.

>O75477|ERLIN1
     1  MNMTQARVLV AAVVGLVAVL LYASIHKIEE GHLAVYYRGG ALLTSPSGPG YHIMLPFITT
    61  FRSVQTTLQT DEVKNVPCGT SGGVMIYIDR IEVVNMLAPY AVFDIVRNYT ADYDKTLIFN
   121  KIHHELNQFC SAHTLQEVYI ELFDQIDENL KQALQKDLNL MAPGLTIQAV RVTKPKIPEA
   181  IRRNFELMEA EKTKLLIAAQ KQKVVEKEAE TERKKAVIEA EKIAQVAKIR FQQKVMEKET
   241  EKRISEIEDA AFLAREKAKA DAEYYAAHKY ATSNKHKLTP EYLELKKYQA IASNSKIYFG
   301  SNIPNMFVDS SCALKYSDIR TGRESSLPSK EALEPSGENV IQNKESTG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ERLIN1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.42
Highest tissue expression: 107 nTPM

Expression across tissuesHPA

Tissue

liver: 107 nTPM
bone marrow: 72 nTPM
placenta: 40 nTPM
duodenum: 38 nTPM
rectum: 36 nTPM
colon: 35 nTPM

Single-cell type

neutrophil progenitors: 216 nCPM
neutrophils: 151 nCPM
monocyte progenitors: 142 nCPM
esophageal apical cells: 106 nCPM
hepatocytes: 104 nCPM
extravillous trophoblasts: 88 nCPM

Immune cell

eosinophil: 25 nTPM
classical monocyte: 20 nTPM
myeloid DC: 16 nTPM
intermediate monocyte: 15 nTPM
neutrophil: 15 nTPM
non-classical monocyte: 12 nTPM

Brain region

basal ganglia: 15 nTPM
choroid plexus: 15 nTPM
hippocampal formation: 13 nTPM
cerebral cortex: 13 nTPM
white matter: 13 nTPM
cerebellum: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ERLIN1.

Disease | AllUniProt

Conditions ERLIN1 is implicated in, by any mechanism.

Spastic paraplegia 62, autosomal recessive (SPG62) MIM:615681

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 186 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.54
gnomAD pLI: 0.18
gnomAD missense Z: 1.79
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ERLIN1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ERLIN1 as an antibody target. Whether an autoantibody or antibody against ERLIN1 could matter depends on whether native ERLIN1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ERLIN1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ERLIN1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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